High Prevalence of Antithrombin Iii, Protein C and Protein S Deficiency, but No Factor v Leiden Mutation in Venous Thrombophilic Chinese Patients in Taiwan

Shen, Ming‐Ching; Lin, Jaw‐Town; Tsay, Woei

doi:10.1016/s0049-3848(97)00141-2

Cited by 95 publications

(82 citation statements)

References 23 publications

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“…For instance, the presence of factor V Leiden is one of the most common hereditary risk factors for thrombosis in Caucasians, although this may not be the case in the Chinese population because of its rarity (Ko et al, 1996). Indeed, other risk factors were studied in another small study (n 85) on thrombophilia in Taiwan where Shen et al (1997) found no subject had factor V Leiden, 3´5% showed a deficiency in anti-thrombin III, 18´8% were deficient in protein C and 32´9% had protein S deficiencies. This is in sharp contrast to the Caucasian population in which the most common genetic risk factors for thrombosis are related to mutations in the factor V gene and prothrombin gene (20210A), which are then followed by deficiencies of natural anticoagulant proteins such as antithrombin III, protein C or protein S (Zoller et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

“…Our findings probably reflect the dominance of northern European Caucasians in Australia. 1% (Poort et al, 1996) 5% in unselected thrombotic cases, 18% of thrombophilia (Poort et al, 1996) Factor V Leiden Absent or very rare (Ko et al, 1996) Absent or very rare Up to 15% (Zoller et al, 1999) 20±60% of thrombotic cases (Zoller et al, 1999) Anti-thrombin III deficiency Data unclear 3´5% of thrombophilia (Shen et al, 1997) Anti-thrombin III, Protein S and C deficiencies together, present in less than 1%…”

Section: Discussionmentioning

confidence: 99%

“…Anti-thrombin III, Protein S and C toghether, present in 5±10% in thrombotic cases (Zoller et al, 1999) Protein C deficiency Data unclear 19% of thrombophilia (Shen et al, 1997) As above As above Protein S deficiency Data unclear 33% of thrombophilia (Shen et al, 1997) As above As above…”

Section: Discussionmentioning

confidence: 99%

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A comparison of polymorphism in the 3′‐untranslated region of the prothrombin gene between Chinese and Caucasians in Australia

Chan¹,

Tao

et al. 2000

Br J Haematol

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The 20210G→A mutation in the 3′‐untranslated (UT) region of the prothrombin gene is extremely rare or absent in the Chinese population (0 in 449 subjects, 140 with a history of thromboembolism). This is in contrast to the results from 302 Caucasians from Australia in our study (4·6% in 153 patients with a thromboembolic history and 1·3% in 149 patients with no history). This rarity implies that the variant of the prothrombin gene is probably not the main cause of venous thromboembolism in the Chinese population. Even among Caucasians this mutation accounts for only a minor percentage of all patients with thromboembolism. The relatively low incidence of venous thromboembolism in the Chinese population compared with Caucasians is probably as a result of the low prevalence of factor V Leiden or other environmental or genetic factors.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A comparison of polymorphism in the 3′‐untranslated region of the prothrombin gene between Chinese and Caucasians in Australia

Chan¹,

Tao

et al. 2000

Br J Haematol

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“…In contrast, the factor V Leiden mutant (R506Q mutation in factor V gene) and prothrombin G20210A variant are the major causes of hereditary thrombophilic patients in Caucasians. However, these two mutations are rarely or never found in Chinese [8,9]. This may explain the low prevalence of venous thromboembolism in Chinese populations.…”

Section: Introductionmentioning

confidence: 97%

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Tsay

Shen

2004

American J Hematol

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We analyzed the genetic defects of 21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed. Eleven mutations were detected in 18 families, while no mutation was detectable in the other three families. Among these mutations, a common genetic mutation of protein C (PROC) gene recurred in 43% (nine propositi from these 21 families). This C6152T mutation at exon 7 resulted in a missense mutation, Arg147Trp (R147W). Each propositus or family carrier had another specific polymorphism T66C at exon 2, which did not change the proline at position (-21). The haplotype analysis strongly suggested a founder effect. The first thrombotic attack was significantly younger in patients with multiple genetic defects or combined with other risk factors than those without precipitating factors. We further studied the prevalence rate of R147W mutations in normal populations through PCR amplification and dot hybridization. Three different cohorts got similar results. The prevalence rate of R147W in health controls is 0.85% [95% confidence interval (CI) 0.35-1.35]. Analysis of plasma protein C levels of all patients or carriers suggested that R147W was a type II deficiency. The odds ratio of thrombosis of R147W is 5.1 (95% CI 1.7-14.8). Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency. This finding is important for screening thrombophilic families in Chinese populations. Am.

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“…However, natural anticoagulant deficiencies-such as protein C, protein S, and antithrombin III deficiencies-are the most common causes of genetic thrombophilia in Asian patients. Several studies of Chinese and Japanese VTE patients reported a paucity of factor V Leiden mutation [67][68][69]; indeed, one study of 418 Koreans reported no factor V Leiden mutation [70]. The prothrombin G20210A mutation is extremely rare in Japanese and Chinese patients [71,72].…”

Section: Recommendationsmentioning

confidence: 99%

Diagnosis and Treatment of Lower Extremity Deep Vein Thrombosis: Korean Practice Guidelines

Kim

Min

Kang

et al. 2016

J Korean Soc Radiol

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High Prevalence of Antithrombin Iii, Protein C and Protein S Deficiency, but No Factor v Leiden Mutation in Venous Thrombophilic Chinese Patients in Taiwan

Cited by 95 publications

References 23 publications

A comparison of polymorphism in the 3′‐untranslated region of the prothrombin gene between Chinese and Caucasians in Australia

A comparison of polymorphism in the 3′‐untranslated region of the prothrombin gene between Chinese and Caucasians in Australia

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Diagnosis and Treatment of Lower Extremity Deep Vein Thrombosis: Korean Practice Guidelines

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